The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Age of Onset Alleles Amino Acid Substitution Axons/chemistry Brain/metabolism Charcot-Marie-Tooth Disease/classification,epidemiology,genetics,pathology Child Child, Preschool Chromosomes, Human, Pair 8/genetics Codon, Nonsense DNA Mutational Analysis Demyelinating Diseases Exons/genetics Female Frameshift Mutation Genes, Recessive Haplotypes/genetics Humans Infant Lod Score Male Molecular Sequence Data Mutation, Missense Nerve Tissue Proteins/deficiency,genetics,physiology Neural Conduction Pedigree Polymerase Chain Reaction Spain/epidemiology Spinal Cord/metabolism

Codon, Nonsense GDAP protein Nerve Tissue Proteins